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What is neurofibromatosis?

Neurofibromatoses are genetic disorders of the nervous system which mainly affect the growth and development of nerve cell tissue. The disorders are known as neurofibromatosis type 1(NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type.

 Neurofibromatosis is usually benign i.e. they are not cancerous, in some cases, they can be disfiguring. Few people with neurofibromatosis barely have any noticeable symptoms, and some have prominent symptoms. They tend to grow in many numbers and varying size, over the period of years.

How does neurofibromatosis affect the body?

Neurofibromatosis (NF) is a genetic neurological disorder. The tumor usually grows along the nerves or on and under the skin. It may affect the brain, spinal cord, nerves, and skin.

What are the types of neurofibromatosis?

Type 1(NF1): It is the common form of neurofibromatosis, it is also known as Von Recklinghausen disease. It is a long lasting chronic form. It mostly affects the peripheral nervous system. It is caused by the mutation of the chromosome 17; it is presented as light brown color spots or coffee in milk spots.

Type 2(NF2): It is the less common form of neurofibromatosis, it is also known as bilateral acoustic neurofibromatosis. It mainly affects the central nervous system, causing tumors of the brain and spinal cord. It is caused by the mutation of chromosome 22; it is presented as hearing loss, ringing in ear and problem with balancing.

How you diagnosed with neurofibromatosis?

Various investigations can confirm the diagnosis

• Complete case history

• Physical examination

• Eye examination

• Ear examination

• Genetic tests

• Skin examination under the special lamp

• Blood test

• Biopsy

• X-ray examination

• CT scan and MRI scan

• Electroencephalogram (EEG)

• Audiometry

• Brainstem auditory

Can neurofibromatosis be treated?

Neurofibromatosis treatment depends on the symptoms of the patient. Following procedures may help:

• Radiation

• Chemotherapy

• Counseling

• surgery

Is neurofibromatosis cancer?

The prognosis depends on individual symptoms if the symptoms are confined to skin only the prognosis is good and lifespan is not affected. Whereas if problems are associated with others systems like circulation system etc. The chances of developing cancer become higher which affects individual’s lifespan.

Can you die from neurofibromatosis?

Not really, Most people with NF1 have live normal, full lives. There are some rare complications, including cancer, that people can develop.

Is neurofibromatosis a rare disease?

Neurofibromatosis is a rare genetic disorder. NF2 is characterized by benign tumors on both auditory nerves (vestibular schwannomas) and in other areas of the body.

Is neurofibromatosis painful?

Most neurofibromas growth may or may not cause problems. Neurofibromas are often itchy.

Severe pain can also be a warning sign that a part of the tumor is becoming malignant (cancerous).

How do you prevent neurofibromatosis?

It cannot be prevented. Neurofibromatosis is a serious, common, genetically determined neurological disorder.

What are the complications?

These conditions may occur:

• Learning and concentration difficulty

• Epilepsy

• Stroke

• Hydrocephalus

• Neurofibromas

• Emotional distress

• Vision difficulty

• Bone deformities

• Skin Lesions

• Weakness or numbness in the extremities

• Cancer

For more information, you can visit NIH and Wikipedia.


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